ClinVar for MedGen (Select 355962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220916	NM_000702.4(ATP1A2):c.2450T>A (p.Ile817Asn)	ATP1A2 (I817N)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 3075680	NM_000702.4(ATP1A2):c.2486T>C (p.Met829Thr)	ATP1A2 (M829T)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 3065454	NM_000702.4(ATP1A2):c.2135C>T (p.Thr712Met)	ATP1A2 (T712M)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 3065346	NM_000702.4(ATP1A2):c.1465T>C (p.Ser489Pro)	ATP1A2 (S489P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 3064837	NM_000702.4(ATP1A2):c.12+2T>A	ATP1A2	Single nucleotide variant (splice donor variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 2430257	NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)	ATP1A2 (C341Y)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +1 more	GLikely pathogenic
Select item 2412820	NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)	ATP1A2, LOC126805890 (S220L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709859	NM_000702.4(ATP1A2):c.782A>G (p.Asp261Gly)	ATP1A2 (D261G)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 1709621	NM_000702.4(ATP1A2):c.2222A>C (p.Gln741Pro)	ATP1A2 (Q741P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 1709000	NM_000702.4(ATP1A2):c.2158C>T (p.Pro720Ser)	ATP1A2 (P720S)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 1341925	NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro)	ATP1A2 (S145P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +2 more	GUncertain significance
Select item 1315281	NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys)	ATP1A2 (R937C)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1291207	NM_000702.4(ATP1A2):c.3034+61G>A	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 1291203	NM_000702.4(ATP1A2):c.177+95T>C	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 1285545	NM_000702.4(ATP1A2):c.1546T>G (p.Ser516Ala)	ATP1A2 (S516A)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 1285386	NM_000702.4(ATP1A2):c.2709+26G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1271154	NM_000702.4(ATP1A2):c.382-85G>A	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 1266851	NM_000702.4(ATP1A2):c.1651+49C>T	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +4 more	GBenign
Select item 1256582	NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Migraine, familial hemiplegic, 2 +7 more	GBenign/Likely benign
Select item 1216390	NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	ATP1A2 (R908Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1197187	NM_000702.4(ATP1A2):c.178-21C>T	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +4 more	GBenign/Likely benign
Select item 1192341	NM_000702.4(ATP1A2):c.1326+49dup	ATP1A2	Duplication (intron variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 1182107	NM_000702.4(ATP1A2):c.2943-47C>G	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign
Select item 1178924	NM_000702.4(ATP1A2):c.2943-27G>C	ATP1A2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1072573	NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln)	ATP1A2 (R834Q)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +1 more	GPathogenic
Select item 996134	NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu)	ATP1A2 (I630L)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 979069	NM_000702.4(ATP1A2):c.2809del (p.Arg937fs)	ATP1A2 (R937fs)	Deletion (frameshift variant)	Alternating hemiplegia of childhood +1 more	GLikely pathogenic
Select item 932528	NM_000702.4(ATP1A2):c.2620G>A (p.Gly874Ser)	ATP1A2 (G874S)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +1 more	GConflicting classifications of pathogenicity
Select item 931798	NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val)	ATP1A2 (G713V)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 931282	NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe)	ATP1A2 (I511F)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 876741	NM_000702.4(ATP1A2):c.*86G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Migraine, familial hemiplegic, 2 +1 more	GBenign
Select item 876692	NM_000702.4(ATP1A2):c.2564-14C>T	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +1 more	GUncertain significance
Select item 876691	NM_000702.4(ATP1A2):c.2563+15G>A	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +2 more	GConflicting classifications of pathogenicity
Select item 876550	NM_000702.3(ATP1A2):c.-146G>A	ATP1A2	Single nucleotide variant	Migraine, familial hemiplegic, 2 +1 more	GUncertain significance
Select item 875893	NM_000702.4(ATP1A2):c.*1737C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 875892	NM_000702.4(ATP1A2):c.*1712C>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 875846	NM_000702.4(ATP1A2):c.*1007G>C	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 875792	NM_000702.4(ATP1A2):c.*535G>C	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 875749	NM_000702.4(ATP1A2):c.*73G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 875026	NM_000702.4(ATP1A2):c.*2223C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 875025	NM_000702.4(ATP1A2):c.*2184A>G	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 874969	NM_000702.4(ATP1A2):c.*1461C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 874968	NM_000702.4(ATP1A2):c.*1356G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 874861	NM_000702.4(ATP1A2):c.*511C>G	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 874860	NM_000702.4(ATP1A2):c.*488G>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 874859	NM_000702.4(ATP1A2):c.*482A>C	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GBenign
Select item 874811	NM_000702.4(ATP1A2):c.*15G>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign/Likely benign
Select item 874765	NM_000702.4(ATP1A2):c.2115+8C>T	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +2 more	GConflicting classifications of pathogenicity
Select item 874764	NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu)	ATP1A2 (S672L)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +3 more	GConflicting classifications of pathogenicity
Select item 874708	NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile)	ATP1A2 (L455I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 874659	NM_000702.4(ATP1A2):c.253C>T (p.Pro85Ser)	ATP1A2 (P85S)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +1 more	GUncertain significance
Select item 874090	NM_000702.4(ATP1A2):c.*2073A>G	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 874089	NM_000702.4(ATP1A2):c.*1835C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 873974	NM_000702.4(ATP1A2):c.*850C>T	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 873859	NM_000702.4(ATP1A2):c.2745C>T (p.Cys915=)	ATP1A2	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 1 +1 more	GUncertain significance
Select item 873804	NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr)	ATP1A2 (S672T)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +2 more	GUncertain significance
Select item 873754	NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +2 more	GConflicting classifications of pathogenicity
Select item 873681	NM_000702.4(ATP1A2):c.45G>A (p.Thr15=)	ATP1A2	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 1 +2 more	GConflicting classifications of pathogenicity
Select item 841998	NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)	ATP1A2 (R51C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 801567	NM_000702.4(ATP1A2):c.671C>T (p.Thr224Ile)	ATP1A2, LOC126805890 (T224I)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 704429	NM_000702.4(ATP1A2):c.2285-7C>T	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2 +2 more	GConflicting classifications of pathogenicity
Select item 698248	NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 674717	NM_000702.4(ATP1A2):c.495+96G>A	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +4 more	GBenign
Select item 670756	NM_000702.4(ATP1A2):c.1017+56G>A	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +4 more	GBenign
Select item 670755	NM_000702.4(ATP1A2):c.748+84T>A	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +4 more	GBenign
Select item 670754	NM_000702.4(ATP1A2):c.495+81T>A	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 670740	NM_000702.4(ATP1A2):c.495+65T>C	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 670739	NM_000702.4(ATP1A2):c.13-22T>C	ATP1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 653622	NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp)	ATP1A2 (R644W)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +2 more	GUncertain significance
Select item 625279	NM_000702.4(ATP1A2):c.118-12T>A	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 590133	NM_000702.4(ATP1A2):c.969C>T (p.Ile323=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 585463	NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)	ATP1A2 (T263M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585462	NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln)	ATP1A2 (R1002Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 575386	NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)	ATP1A2 (A688S)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +3 more	GUncertain significance
Select item 570135	NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn)	ATP1A2 (T517N)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +5 more	GConflicting classifications of pathogenicity
Select item 567135	NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp)	ATP1A2 (G366D)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GUncertain significance
Select item 559476	Single allele		Deletion	Variegate porphyria +3 more	GPathogenic
Select item 516526	NM_000702.4(ATP1A2):c.660G>A (p.Ser220=)	LOC126805890, ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +6 more	GBenign/Likely benign
Select item 509169	NM_000702.4(ATP1A2):c.631-16A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign/Likely benign
Select item 507066	NM_000702.4(ATP1A2):c.2116-14C>T	ATP1A2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 460306	NM_000702.4(ATP1A2):c.471T>C (p.Asp157=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +6 more	GBenign/Likely benign
Select item 460300	NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 453128	NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp)	ATP1A2, LOC126805890 (N246D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 446872	NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr)	ATP1A2 (D894Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 446871	NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)	ATP1A2 (G855R)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +5 more	GPathogenic
Select item 432411	NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn)	ATP1A2 (D528N)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +3 more	GConflicting classifications of pathogenicity
Select item 430293	NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)	ATP1A2 (A297T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 421446	NM_000702.4(ATP1A2):c.1326+8del	ATP1A2	Deletion (intron variant)	Familial hemiplegic migraine +5 more	GBenign/Likely benign
Select item 406194	NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)	ATP1A2 (R421Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 390229	NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met)	ATP1A2 (V924M)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +3 more	GUncertain significance
Select item 387509	NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=)	ATP1A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 387342	NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys)	ATP1A2 (R428C)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +4 more	GUncertain significance
Select item 385689	NM_000702.4(ATP1A2):c.2564-8A>G	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +5 more	GBenign/Likely benign
Select item 385392	NM_000702.4(ATP1A2):c.1461+5G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 384176	NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)	ATP1A2 (T620R)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +5 more	GUncertain significance
Select item 377530	NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +7 more	GBenign/Likely benign
Select item 377529	NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +7 more	GBenign/Likely benign
Select item 377527	NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +6 more	GBenign/Likely benign
Select item 377526	NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +5 more	GBenign
Select item 293189	NM_000702.4(ATP1A2):c.*2259T>A	ATP1A2	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 1 +1 more	GBenign

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